Volume 30; Issue 6

Journal of Medical Genetics

Volume 30; Issue 6

1

A large family with patent ductus arteriosus and unusual face.

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 917 KB

english, 1993

2

Medical genetics: advances in brief

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 276 KB

english, 1993

3

The contribution of genetic factors to the pathogenesis of type I (insulin dependent) diabetes mellitus.

Grundbacher, F J

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 812 KB

english, 1993

4

Medical genetics: advances in brief: Expression of Xist during mouse development suggests a role in the initiation of X chromosome inactivation

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 276 KB

english, 1993

5

Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible.

Wallis, G A, Sykes, B, Byers, P H, Mathew, C G, Viljoen, D, Beighton, P

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 897 KB

english, 1993

6

Practical Molecular Virology

Bangham, C. R M

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 305 KB

english, 1993

7

Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter.

Morichon-Delvallez, N, Delezoide, A L, Vekemans, M

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 960 KB

english, 1993

8

Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles.

Landels, E C, Green, P M, Ellis, I H, Fensom, A H, Kaback, M M, Lim-Steele, J, Zeiger, K, Levy, N, Bobrow, M

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 493 KB

english, 1993

9

Severe intrauterine growth retardation, blepharophimosis, and cylindrical nose with midline groove: a new syndrome?

de Die-Smulders, C E, Droog, R P, van Dijk, M, Fryns, J P

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 320 KB

english, 1993

10

Frequency of delta F508 in a Mexican sample of cystic fibrosis patients.

Orozco, L, Salcedo, M, Lezana, J L, Chavez, M, Valdez, H, Moreno, M, Carnevale, A

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 427 KB

english, 1993

11

A new restriction fragment length polymorphism at the DXS101 locus allows carrier detection in a family with X linked agammaglobulinaemia.

Sweatman, A, Lovering, R, Middleton-Price, H, Jones, A, Morgan, G, Levinsky, R, Kinnon, C

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 664 KB

english, 1993

12

Complications of the naevoid basal cell carcinoma syndrome: results of a population based study.

Evans, D G, Ladusans, E J, Rimmer, S, Burnell, L D, Thakker, N, Farndon, P A

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 942 KB

english, 1993

13

Weyers' ulnar ray/oligodactyly syndrome.

Lungarotti, M S, Calabro, A

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 287 KB

english, 1993

14

Low segregation ratios in autosomal recessive disorders.

Bundey, S, Young, I D

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 457 KB

english, 1993

15

Population studies of the fragile X: a molecular approach.

Jacobs, P A, Bullman, H, Macpherson, J, Youings, S, Rooney, V, Watson, A, Dennis, N R

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 958 KB

english, 1993

16

A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents.

al-Gazali, L I, Khalil, M, Devadas, K

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 1.90 MB

english, 1993

17

Isolation of the defective gene in X linked agammaglobulinaemia.

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 455 KB

english, 1993

18

Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency.

Dianzani, I, Howells, D W, Ponzone, A, Saleeba, J A, Smooker, P M, Cotton, R G

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 1007 KB

english, 1993

19

Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.

Clayton-Smith, J, Webb, T, Cheng, X J, Pembrey, M E, Malcolm, S

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 692 KB

english, 1993

20

Reply

Suthers, G. K, Davies, K. E, Huson, S. M

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 286 KB

english, 1993

21

Medical genetics: advances in brief: Intellectual development at age of 12 years of children with congenital hypothyroidism diagnosed by neonatal screening

Fitzpatrick, D.

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 276 KB

english, 1993

22

Cerebellar ataxia and ectodermal dysplasia in brothers.

Baraitser, M, Reardon, W, McShane, A, Wilson, J

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 842 KB

english, 1993

23

Congenital nystagmus cosegregating with a balanced 7;15 translocation.

Patton, M A, Jeffery, S, Lee, N, Hogg, C

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 502 KB

english, 1993

24

Corrections

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 112 KB

english, 1993

25

Molecular diagnosis of myotonic dystrophy.

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 286 KB

english, 1993

26

Our Genetic Future: The Science and Ethics of Genetic Technology

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 305 KB

english, 1993

27

Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26.

Pericak-Vance, M A, Nunes, K J, Whisenant, E, Loeb, D B, Small, K W, Stajich, J M, Rimmler, J B, Yamaoka, L H, Smith, D I, Drabkin, H A

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 947 KB

english, 1993

28

Medical genetics: advances in brief: Mutations in the Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 276 KB

english, 1993

29

Interaction of incontinentia pigmenti and factor VIII mutations in a female with biased X inactivation, resulting in haemophilia.

Coleman, R, Genet, S A, Harper, J I, Wilkie, A O

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 769 KB

english, 1993

30

RFLP analysis for APP 717 mutations associated with Alzheimer's disease.

Zeldenrust, S R, Murrell, J, Farlow, M, Ghetti, B, Roses, A D, Benson, M D

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 777 KB

english, 1993

31

Deletion 9p and sex reversal.

Bennett, C P, Docherty, Z, Robb, S A, Ramani, P, Hawkins, J R, Grant, D

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 844 KB

english, 1993

32

Medical genetics: advances in brief: Congenital bilateral perisylvian syndrome: study of 31 patients

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 276 KB

english, 1993

33

Three patients with ring (X) chromosomes and a severe phenotype.

Dennis, N R, Collins, A L, Crolla, J A, Cockwell, A E, Fisher, A M, Jacobs, P A

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 1.44 MB

english, 1993

34

Edward Meryon (1809-1880) and muscular dystrophy.

Emery, A E, Emery, M L

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 931 KB

english, 1993